Anyone have a child with occular albinism?

Question

I found out yesterday that my son has something called occular albinism. It is the same thing as an albino person, how they have no color pigment in there skin or hair, only this is only in his eyes.

My dad has this also, although I didnt know the name of it, and didnt know my son had the same thing. My sons eyes wander back and forth alot, and he cant focus and is light sensitive. My dads also shake but way less then my sons. This is inherited. The outside of the eyes are blue, but the inner part of the eye is pigmentless. It could get better, or worse.

My question is, does anyone have a child like this and if so, what kind of difficultys did you find they have/had as a child? Do you have more then one child with it if you have more then one child? Did it get better? And anything else you can tell me about your experience would be greatly appriciated!

Answer 1

Ocular albinism is a heriditary condition, X linked, meaning that the gene is usually not expressed in the female. Affected fathers pass it on to their daughters who, in turn, pass it on to their sons. Statistically only half the daughters will be carriers and only 50% of the sons of carrier mothers will express the condition.

Almost all affected males have the wandering eyes you describe. This is called nystagmus, and is due to a poorly developed fovea, the part of the retina responsible for our most acute central vision.

There are other types of ocular albinism, but I think the X-linked form describes your father and son best.

Although your son is not blind, he may be elegible for assistance through his school district or through organizations that help the visually impaired. A social worker may assist you in finding aid.

Answer 2

Two of my aunt's three kids have albinism (not just ocular). For each child she had, there was a 25% chance, but she had 2 out of 3. They are both legally blind, but perfectly healthy otherwise, except that they need to be careful in the sun.

This website has a lot of information:

http://www.albinism.org/publications/ocular.html